A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242978



Internal ID22375437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:11296358..11313626hg38UCSC Ensembl
Outerchr20:11277006..11294274hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265843, nssv14265844, nssv14265845, nssv14265842
SamplesNA19238, NA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242978
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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